rs763804037 Rat Genome Database

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Variant: rs763804037 -  Homo sapiens

RGD ID: 126774233
RS ID: rs763804037
ClinVar ID: CV1029125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 21,974,684
GRCh38 9 21,974,685
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363763.2:c.-3-3477C>A
NM_000077.5:c.143C>A
NM_001195132.2:c.143C>A
NM_058197.5:c.143C>A
More... 		07/05/2022 intron variant uncertain significance Hereditary cutaneous melanoma; Hereditary melanoma
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:XM_047422597
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:5UTRS;INTRON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRQIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSEMIGNHLW
VCRSRHA*

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRQIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSVTASIQVP
GGEEGDFGSSYS*

Gene Symbol:CDKN2A
Accession:NM_000077
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRQIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRQIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSAGWTNLRI
SKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:NM_058197
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRQIQVGRGSAAGAGDGGRLWRTKFAGELESGSAS
ILRKKGRLPGEFSEGVCNHRPPPGDALGAWEAKEEE*

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:INTRON

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:INTRON

Gene Symbol:CDKN2A
Accession:NM_058195
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9168184   PMID:10338331   PMID:10491434   PMID:11556834   PMID:21462282   PMID:28492532   PMID:28830827   PMID:32482799  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001346988 CLINVAR
dbSNP (RS) rs763804037 CLINVAR
MedGen C1512419 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR